Canonical Allele Identifier: CA413197883
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v4: X-50915858-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915858A>C , CM000685.2:g.50915858A>C GRCh38
NC_000023.10:g.50658858A>C , CM000685.1:g.50658858A>C GRCh37
NC_000023.9:g.50675598A>C NCBI36
NG_012894.1:g.10075A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.430A>C MANE Select ENSP00000252677.3:p.Thr144Pro
ENST00000252677.3:c.430A>C ENSP00000252677.3:p.Thr144Pro
NM_005448.2:c.430A>C MANE Select NP_005439.2:p.Thr144Pro